rs386134187

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs386134187(-;-)

Make rs386134187(-;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

201723335

Gene

ALS2

is a	snp
is	mentioned by
dbSNP	rs386134187
dbSNP (classic)	rs386134187
ClinGen	rs386134187
ebi	rs386134187
HLI	rs386134187
Exac	rs386134187
Gnomad	rs386134187
Varsome	rs386134187
LitVar	rs386134187
Map	rs386134187
PheGenI	rs386134187
Biobank	rs386134187
1000 genomes	rs386134187
hgdp	rs386134187
ensembl	rs386134187
geneview	rs386134187
scholar	rs386134187
google	rs386134187
pharmgkb	rs386134187
gwascentral	rs386134187
openSNP	rs386134187
23andMe	rs386134187
SNPshot	rs386134187
SNPdbe	rs386134187
MSV3d	rs386134187
GWAS Ctlg	rs386134187

Max Magnitude

0

ClinVar
Risk	rs386134187(-;-)
Alt	rs386134187(-;-)
Reference	Rs386134187(A;A)
Significance	Pathogenic
Disease	Infantile-onset ascending hereditary spastic paralysis
Variation	info
Gene	ALS2
CLNDBN	Infantile-onset ascending hereditary spastic paralysis
Reversed	1
HGVS	NC_000002.11:g.202588058delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004658.4,

[PMID 12145748] Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.